Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations.
Gene
; 536(2): 344-7, 2014 Feb 25.
Article
em En
| MEDLINE
| ID: mdl-24342658
ABSTRACT
This study aimed to determine the enzymatic activity in dried blood samples collected on filter paper (DBS) for the diagnosis of the following diseases Fabry, Pompe, Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharosis type VI (MPS VI). DBS was used for high risk patientscreening, according to clinical suspicion. Plasma, leukocytes and cultured fibroblasts were used to confirm the diagnosis when necessary. Among the 529 DBS samples sent to the laboratory, 164 had abnormal results. Confirmatory materials of 73 individuals were rerouted. The frequency of diagnosis for lysosomal storage disorders was 5.9%. DBS is an alternative screening technique used in high risk populations, which should lead to earlier diagnosis for lysosomal storage disorders (LSDs), help patients get treatment sooner and improve the outcome of the disease.
Palavras-chave
ASB; Alpha-galactosidase A; Alpha-glucosidase; Alpha-iduronidase; Arylsulphatase B; DBS; Dried blood spots collected on filter paper; Dried blood spots on filter paper; GAA; GAL; IDUA; LC/MS/MS; LSDs; Liquid chromatography combined with tandem mass spectrometry; Lysosomal storage diseases; Lysosomal storage disorders; MPS I; MPS VI; Mucopolysaccharidosis type I; Mucopolysaccharosis type VI; ROC; Receiver Operating Characteristics; Screening high risk populations
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças por Armazenamento dos Lisossomos
/
Hidrolases
/
Lisossomos
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article